We have introduced Bruno Lopes to our supporters before – Bruno is a veterinary neurologist, from Southfields Veterinary Specialists, who has recently started studying for a PhD on a part-time basis at Cambridge Vet School. For his PhD, Bruno will be investigating the genetics of Intervertebral disc disease (IVDD), the most common cause of spinal injury in dogs. IVDD can affect all breeds but chondrodystrophic (short-legged) breeds are at highest risk and Dachshunds are more likely to be affected by IVDD than other breeds.
In 2017 a genetic risk factor for IVDD was identified that segregates in multiple, short-legged breeds, including the Dachshund. This risk factor is known as the CDDY mutation, and dogs that carry this genetic variant are known to be at increased risk of IVDD compared to dogs that don’t carry it. (1,2,3)
However, despite this shared genetic risk factor, individual dogs and breeds vary significantly with respect to their age and clinical presentation of IVDD, which suggests that additional genetic risk factors are involved, in addition to CDDY.
As part of an exciting collaboration between the University of Cambridge Veterinary School and Wisdom Panel, Bruno will be investigating the underlying genetics of disc calcification in Dachshunds as part of his PhD. There is a relationship between IVDD and the presence of calcified intervertebral discs, and it is also known that disc calcification is inherited (4,5), which has led to the development of breeding programmes including radiographic screening for intervertebral disc calcification such as the UK Kennel Club IVDD Scheme for Dachshunds.
With help from our partners at Wisdom Panel, we aim to collect DNA from as many Dachshunds as possible that have been assessed under The Kennel Club/Dachshund Health UK IVDD Screening Programme and for which an official score is available.
We will genotype these dogs for genetic markers spread across the genome and identify regions of the genome that are associated with disc calcification score. As part of this investigation, we will genotype all these dogs for the CDDY mutation, enabling us to obtain the first accurate estimate of CDDY frequency in the UK Dachshund population.
Can you help our research?
If you own at least one Dachshund that has been screened under the Kennel Club/Dachshund Health UK IVDD Screening Programme your dog(s) could help with this research. Please request a sample collection kit from us via our online form.
References
- Batcher K et al. Phenotypic Effects of FGF4 Retrogenes on Intervertebral Disc Disease in Dogs. Genes (Basel), 2019. 10(6).
- Brown EA et al. FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci U S A, 2017. 114(43): p. 11476-11481.
- Bannasch D et al. The Effects of FGF4 Retrogenes on Canine Morphology. Genes (Basel), 2022. 13(2).
- Lappalainen AK et al. Intervertebral disc disease in Dachshunds radiographically screened for intervertebral disc calcifications. Acta Vet Scand (2014) 56:89
- Lappaleipen et al. Estimate of heritability and genetic trend of intervertebral disc calcification in Dachshunds in Finland. Acta Vet Scand (2015) 57:78
